ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Department of Pathology and Laboratory Medicine, Sinai Health System and "risk factor" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP gnomAD frequency
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter) rs387906843 0.00003
NM_002878.4(RAD51D):c.363del (p.Ala122fs) rs730881935 0.00002
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter) rs387907159

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